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20121201
20121231
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KRCB (PBS) 1
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PBS
Dec 29, 2012 11:30am PST
-2500 people in the u.s. generally speaking a disease as rare if it afflicts fewer than 200,000 people. many of these diseases are genetic. but in truth, there's nothing rare about rare diseases. >> conditions like for instance, hearing loss or deafness, there's many genes that can -- in which mutati can lead to hearing impairment. but in one specific family an individual single gene will be responsible. so in the mixture of the phenotype of how many people can have hearing impairment it's not as rare as people think it is. the same goes for conditions like developmental delay or even birth defects. 2-3% of all children are born with a major birth defect no matter where you do the studies around the world and that is a significant% of the population. they have different kinds of birth defects and the individual birth defect might be considered a rare defect like the general heart defect or kidney defect. but actually there is many children that are born with birth defects. >> here in the u.s. there are more than 7,000 rare diseases affecting 25 million children and adults. studying the dna o
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